MEACHS
MCID: MCH011
MIFTS: 33

Meacham Syndrome (MEACHS)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome 57 59 74 29 13 6 40 72
Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome 59
Meacham Winn Culler Syndrome 72
Meacham-Winn-Culler Syndrome 59
Meachs 74

Characteristics:

Orphanet epidemiological data:

59
meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

OMIM 57 608978
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1837026 C2931752
Orphanet 59 ORPHA3097
MedGen 42 C1837026
UMLS 72 C1837026 C2931752

Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : 74 Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to meacham winn culler syndrome and diaphragmatic hernia, congenital. An important gene associated with Meacham Syndrome is WT1 (WT1 Transcription Factor). Affiliated tissues include heart, uterus and lung, and related phenotypes are congenital diaphragmatic hernia and aplasia/hypoplasia of the lungs

More information from OMIM: 608978

Related Diseases for Meacham Syndrome

Graphical network of the top 20 diseases related to Meacham Syndrome:



Diseases related to Meacham Syndrome

Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000776
2 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
3 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
4 vaginal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000148
5 abnormality of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0011027
6 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
7 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
8 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
9 hydrometrocolpos 59 32 frequent (33%) Frequent (79-30%) HP:0030010
10 pulmonary sequestration 59 32 frequent (33%) Frequent (79-30%) HP:0100632
11 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
12 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
13 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
14 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
15 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
16 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
17 abnormality of the spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001743
18 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
19 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
20 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
21 anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010772
22 crossed fused renal ectopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004736
23 abnormality of the vagina 59 Very frequent (99-80%)
24 abnormal lung lobation 59 Frequent (79-30%)
25 conotruncal defect 59 Occasional (29-5%)

Clinical features from OMIM:

608978

Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

# Genetic test Affiliating Genes
1 Meacham Syndrome 29 WT1

Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

41
Heart, Uterus, Lung, Kidney, Spleen

Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

(show all 11)
# Title Authors PMID Year
1
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 38 8 71
17853480 2007
2
Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. 38 8
11822701 2002
3
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 71
9607189 1998
4
A clinical overview of WT1 gene mutations. 71
9090524 1997
5
Inherited WT1 mutation in Denys-Drash syndrome. 71
1327525 1992
6
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 71
1338906 1992
7
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 71
1302008 1992
8
Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. 8
1844355 1991
9
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 71
1655284 1991
10
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 71
6307071 1983
11
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 38
16932893 2006

Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1): c.1399C> T (p.Arg467Trp) single nucleotide variant Pathogenic rs121907900 11:32413566-32413566 11:32392020-32392020
2 WT1 NM_024426.6(WT1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121907906 11:32414263-32414263 11:32392717-32392717
3 WT1 NM_024426.6(WT1): c.1315C> T (p.Arg439Cys) single nucleotide variant Pathogenic rs121907910 11:32414251-32414251 11:32392705-32392705
4 WT1 NM_024426.6(WT1): c.375C> T (p.Gly125=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 11:32456532-32456532 11:32434986-32434986
5 WT1 NM_024426.6(WT1): c.381C> G (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 11:32456526-32456526 11:32434980-32434980
6 WT1 NM_024426.6(WT1): c.314C> G (p.Ala105Gly) single nucleotide variant Uncertain significance rs948061247 11:32456593-32456593 11:32435047-32435047
7 WT1 NM_024426.6(WT1): c.83G> A (p.Gly28Glu) single nucleotide variant Uncertain significance rs751641518 11:32456824-32456824 11:32435278-32435278
8 WT1 NM_024426.6(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 11:32409919-32409919 11:32388373-32388373
9 WT1 NM_024426.6(WT1): c.*614A> C single nucleotide variant Uncertain significance rs886048219 11:32409990-32409990 11:32388444-32388444
10 WT1 NM_024426.6(WT1): c.*110C> T single nucleotide variant Uncertain significance rs757474299 11:32410494-32410494 11:32388948-32388948
11 WT1 NM_024426.6(WT1): c.887+4G> A single nucleotide variant Uncertain significance rs778673400 11:32449498-32449498 11:32427952-32427952
12 WT1 NM_024426.6(WT1): c.390A> G (p.Pro130=) single nucleotide variant Uncertain significance rs886048228 11:32456517-32456517 11:32434971-32434971
13 WT1 NM_024426.6(WT1): c.162C> G (p.Ser54Arg) single nucleotide variant Uncertain significance rs776954184 11:32456745-32456745 11:32435199-32435199
14 WT1 NM_024426.6(WT1): c.-82A> C single nucleotide variant Uncertain significance rs886048236 11:32456988-32456988 11:32435442-32435442
15 WT1 NM_024426.6(WT1): c.-102C> A single nucleotide variant Uncertain significance rs886048240 11:32457008-32457008 11:32435462-32435462
16 WT1 NM_024426.6(WT1): c.-110C> T single nucleotide variant Uncertain significance rs886048241 11:32457016-32457016 11:32435470-32435470
17 WT1 NM_024426.6(WT1): c.-114T> A single nucleotide variant Uncertain significance rs886048242 11:32457020-32457020 11:32435474-32435474
18 WT1 NM_024426.6(WT1): c.-135G> A single nucleotide variant Uncertain significance rs886048243 11:32457041-32457041 11:32435495-32435495
19 WT1 NM_024426.6(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 11:32409546-32409546 11:32388000-32388000
20 WT1 NM_024426.6(WT1): c.*1021_*1022GT[18] short repeat Uncertain significance rs58549495 11:32409550-32409551 11:32388004-32388005
21 WT1 NM_024426.6(WT1): c.*1021_*1022GT[14] short repeat Uncertain significance rs58549495 11:32409550-32409555 11:32388004-32388009
22 WT1 NM_024426.6(WT1): c.*1021_*1022GT[20] short repeat Uncertain significance rs58549495 11:32409550-32409555 11:32388004-32388009
23 WT1 NM_024426.6(WT1): c.*785C> A single nucleotide variant Uncertain significance rs886048214 11:32409819-32409819 11:32388273-32388273
24 WT1 NM_024426.6(WT1): c.*707C> A single nucleotide variant Uncertain significance rs886048217 11:32409897-32409897 11:32388351-32388351
25 WT1 NM_024426.6(WT1): c.*574del deletion Uncertain significance rs5030319 11:32410030-32410030 11:32388484-32388484
26 WT1 NM_024426.6(WT1): c.*460C> A single nucleotide variant Uncertain significance rs886048221 11:32410144-32410144 11:32388598-32388598
27 WT1 NM_024426.6(WT1): c.*393G> T single nucleotide variant Uncertain significance rs886048222 11:32410211-32410211 11:32388665-32388665
28 WT1 NM_024426.6(WT1): c.*159G> C single nucleotide variant Uncertain significance rs746218880 11:32410445-32410445 11:32388899-32388899
29 WT1 NM_024426.6(WT1): c.1200C> T (p.Tyr400=) single nucleotide variant Uncertain significance rs886048227 11:32417867-32417867 11:32396321-32396321
30 WT1 NM_024426.6(WT1): c.247G> T (p.Ala83Ser) single nucleotide variant Uncertain significance rs886048231 11:32456660-32456660 11:32435114-32435114
31 WT1 NM_024426.6(WT1): c.174C> G (p.Leu58=) single nucleotide variant Uncertain significance rs886048232 11:32456733-32456733 11:32435187-32435187
32 WT1 NM_024426.6(WT1): c.136G> T (p.Ala46Ser) single nucleotide variant Uncertain significance rs886048233 11:32456771-32456771 11:32435225-32435225
33 WT1 NM_024426.6(WT1): c.-76T> C single nucleotide variant Uncertain significance rs886048235 11:32456982-32456982 11:32435436-32435436
34 WT1 NM_024426.6(WT1): c.-86T> C single nucleotide variant Uncertain significance rs886048237 11:32456992-32456992 11:32435446-32435446
35 WT1 NM_024426.6(WT1): c.-94G> C single nucleotide variant Uncertain significance rs886048239 11:32457000-32457000 11:32435454-32435454
36 WT1 NM_024426.6(WT1): c.*1225T> C single nucleotide variant Uncertain significance rs886048210 11:32409379-32409379 11:32387833-32387833
37 WT1 NM_024426.6(WT1): c.*1021_*1022GT[15] short repeat Uncertain significance rs58549495 11:32409550-32409553 11:32388004-32388007
38 WT1 NM_024426.6(WT1): c.*1021_*1022GT[19] short repeat Uncertain significance rs58549495 11:32409550-32409553 11:32388004-32388007
39 WT1 NM_024426.6(WT1): c.*741G> T single nucleotide variant Uncertain significance rs886048216 11:32409863-32409863 11:32388317-32388317
40 WT1 NM_024426.6(WT1): c.*534C> T single nucleotide variant Uncertain significance rs868546165 11:32410070-32410070 11:32388524-32388524
41 WT1 NM_024426.6(WT1): c.*366C> A single nucleotide variant Uncertain significance rs886048223 11:32410238-32410238 11:32388692-32388692
42 WT1 NM_024426.6(WT1): c.*354G> T single nucleotide variant Uncertain significance rs886048224 11:32410250-32410250 11:32388704-32388704
43 WT1 NM_024426.6(WT1): c.*841C> A single nucleotide variant Uncertain significance rs886048213 11:32409763-32409763 11:32388217-32388217
44 WT1 NM_024426.6(WT1): c.*269G> T single nucleotide variant Uncertain significance rs886048225 11:32410335-32410335 11:32388789-32388789
45 WT1 NM_024426.6(WT1): c.1198T> C (p.Tyr400His) single nucleotide variant Uncertain significance rs746353651 11:32417869-32417869 11:32396323-32396323
46 WT1 NM_024426.6(WT1): c.-90T> C single nucleotide variant Uncertain significance rs886048238 11:32456996-32456996 11:32435450-32435450
47 WT1 NM_024426.6(WT1): c.-106C> T single nucleotide variant Uncertain significance rs867975105 11:32457012-32457012 11:32435466-32435466
48 WT1 NM_024426.6(WT1): c.-140C> T single nucleotide variant Uncertain significance rs886048244 11:32457046-32457046 11:32435500-32435500
49 WT1 NM_024426.6(WT1): c.*768A> C single nucleotide variant Uncertain significance rs886048215 11:32409836-32409836 11:32388290-32388290
50 WT1 NM_024426.6(WT1): c.*666A> G single nucleotide variant Uncertain significance rs374306749 11:32409938-32409938 11:32388392-32388392

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 WT1 p.Arg366Cys VAR_007745
2 WT1 p.Arg394Trp VAR_007750

Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

Pathways for Meacham Syndrome

GO Terms for Meacham Syndrome

Sources for Meacham Syndrome

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69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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